Leydig Cell Hypoplasia
What's New
Last Posted: Aug 27, 2024
- LHCGR inactivating variants: single center experience and systematic review of phenotype-genotype of 46,XY and 46,XX patients.
Rohit Barnabas, et al. Endocrine connections 2024 0 - Novel Compound Heterozygous Variants in the LHCGR Gene in a Genetically Male Patient with Female External Genitalia.
Yan Mei, et al. Journal of clinical research in pediatric endocrinology 2018 0 (2) 211-217 - Novel mutations of the LHCGR gene in two families with 46,XY DSD causing Leydig cell hypoplasia I.
Hassan Heba Amin, et al. Hormones (Athens, Greece) 2020 0 (4) 573-579 - Leydig cell hypoplasia
From NCATS Genetic and Rare Diseases Information Center
Content Summary
Selected Rare Diseases
- Alpha-1 Antitrypsin Deficiency
- Amyotrophic Lateral Sclerosis
- Brugada Syndrome
- Cerebral Palsy
- Cystic Fibrosis
- Duchenne Muscular Dystrophy
- Eclampsia
- Erythema Multiforme
- Familial Mediterranean Fever
- Fragile X Syndrome
- Gaucher Disease
- Glomerulonephritis
- Graves Disease
- Hemophilia
- Huntington Disease
- Microcephaly
- Myasthenia Gravis
- Phenylketonuria
- Retinitis Pigmentosa
- Severe Combined Immunodeficiency
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- Page last reviewed:Feb 1, 2024
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